Globin chain synthesis in the greek type (A gamma) of hereditary persisitence of fetal haemoglobin

Br J Haematol. 1975 Jan;29(1):137-48. doi: 10.1111/j.1365-2141.1975.tb01807.x.

Abstract

Globin chain synthesis was studied in a family with both the Greek (Agamma) type of hereditary persistence of fetal haemoglobin and beta thalassaemia. The ratio of alpha/(gamma+beta+delta) chain synthesis in the hereditary persistence of fetal haemoglobin (HPFH) heterozygotes was 0.97 while in the HPFH/beta-thalassaemia heterozygote it was 2.14. However, calculation of the amounts of haemoglobin synthesized per cell suggests that in the HPFH/beta-thalassaemia heterozygote, the beta- and Agamma-chain genes in cis to the HPFH determinant are unable to compensate for the deficiency of chains imposed by the beta-thalassaemia gene in trans and that the increased synthesis of Hb F is directed by the gamma-chain genes located on the beta-thalassaemia chromosome. The data suggest that synthesis of beta and Agamma chains in the Greek HPFH is fixed at a 'preset' level and indicate that the defect might be due to an abnormality in the rate of transcription of the closely linked beta-, delta- and gamma-chain genes.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aging
  • Amino Acids / analysis
  • Female
  • Fetal Hemoglobin* / analysis
  • Genetic Variation*
  • Globins / analysis
  • Globins / biosynthesis*
  • Greece / ethnology
  • Hemoglobins, Abnormal / analysis
  • Heterozygote
  • Humans
  • Middle Aged
  • Pedigree
  • Thalassemia / blood*

Substances

  • Amino Acids
  • Hemoglobins, Abnormal
  • Globins
  • Fetal Hemoglobin